ESPE Abstracts

Background: A thirty-four months old boy was referred for precocious puberty. He was the first child of healthy non-consanguineous parents. His family history was unremarkable. He had no exposure to oestrogenic endocrine-disrupting chemicals. He had presented secondary sexual characteristics for five months: pubic hair, enlarged testicular volume to 6 ml (Tanner stage P2A1G2) and enlarged penile size. He had a deepening voice and aggressive behavior. He had a significant growt...

Background: Loss of function mutations in KISS1R, which encodes kisspeptin receptor have been reported in very few patients with normosmic isolated hypogonadotropic hypogonadism (nIHH).Objective and hypotheses: To describe the phenotype of the nIHH female patient with a novel homozygous KISS1R mutation and to characterize functionally this mutation. The patient was a 28 year-old Senegalese woman with primary amenorrhea. She was the seco...

Background: Bone X-rays provide the main diagnostic parameters for chondrodysplasia, including common dyschondrosteosis (DC). Skeleton is usually studied piece by piece by visual analysis in search of characteristic signs. The phenotypic spectrum of DC is large. Indeed, children who have seemingly idiopathic short stature (ISS) may have subtle forms of DC that can be unrecognized.Objectives: Provide a user-friendly computer-assisted program that facilita...

Background: Telomere length at birth is a major determinant of telomere length in late adulthood. However, the prenatal setting of telomere length is poorly understood. Individuals born large from non-diabetic mothers are at lower risk for later-life disorders than those born small, a feature of their longer health span being a higher lean mass that provides more muscle strength and that is already present in infancy.Objective, hypotheses & methods: ...

Introduction: Growth promoting effects of GH occur in parallel with its impact on insulin sensitivity and lipid metabolism; underlying biological networks that link these actions are not defined. Our objective was to identify gene expression (GE) networks linking growth with metabolic responses in GH-treated children with GHD.Methods/design: Pre-pubertal children with GH Deficiency GHD (n=125) were enrolled from the PREDICT short-term (NCT002561...

Introduction: There are few published large-cohort studies examining the long-term impact of GNRH analogue treatment for precocious puberty (PP) on fertility in women. The PREFER study analysed fertility in a large cohort of women treated during childhood for PP with triptorelin.Methods: PREFER was a longitudinal, descriptive, non-comparative, epidemiological study conducted in 23 centres in France between February 2007 and November 2009. Women aged &#88...

Background: A basal 17-hydroxyprogesterone (17-OHP) plasma level of 6.0 nmol/l was suggested as a threshold for the diagnosis of non-classical congenital adrenal hyperplasia (NCCAH), particularly in children presenting with precocious pubarche (PP).Objective: The present study aimed to determine if this threshold could lead to underdiagnosis of NCCAH.Method: In a retrospective study the cohort of pediatric patients (n=145,...

Background: McCune–Albright syndrome (MAS) is a sporadic and rare disorder, clinically defined by the classic triad of cafè-au-lait skin lesions, polyostotic fibrous dysplasia, and peripheral precocious puberty. Precocious puberty is common in girls, but has been reported in only 15% of affected boys. Clinical trials on therapeutic management of precocious puberty in MAS boys are limited to case reports or small patient cohorts and no data are reported about final he...

Background: DMXL2 haploinsufficiency in humans was recently shown to cause the polyendocrine-polyneuropathia syndrome including a GnRH deficiency (OMIM #616113). The neuronal deletion of Dmxl2 in mice (Nes::Cre;Dmxl2loxp/wt) caused infertility and gonadotropic deficiency (Plos Biology 9 e1001952, 2014). Dmxl2 encodes rabconnectin-3α (rbcn-3α), which participates in the control of the V-ATPase activity an...

Background: In gender dysphoric adolescents GnRH agonists can be used to suppress pubertal development of the natal sex. Subsequently cross sex hormones can be given to induce pubertal development of the experienced gender. Only few data are available on the safety of this treatment. Lipid levels are known to increase during puberty and pubertal suppression may alter this increase. In gender dysphoric male-to female (MtF) adults oestrogens has been shown to result in a more fa...